{"orpha":628,"name":"Diastrophic dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diastrophic dwarfism"],"definition":"A rare osteochondrodysplasia characterized by shortened limbs, normal sized head, short stature with short extremities (final adult height is 120cm +/- 20cm), spinal deformities and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). The name indicates the ''twisted'' appearance of the spine and limbs in severe forms that is peculiar of this condition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-628/","orphanet_url":"https://www.orpha.net/en/disease/detail/628","names":{"fr":{"name":"Nanisme diastrophique","synonyms":["Dysplasie diastrophique"],"definition":"Ostéochondrodysplasie rare caractérisée par un raccourcissement des membres, une tête de taille normale, une petite taille avec des extrémités courtes (taille adulte définitive est de 120 cm +/- 20 cm), des déformations de la colonne vertébrale et des malformations articulaires entraînant de multiples contractures articulaires (touchant principalement les épaules, les coudes, les articulations interphalangiennes et les hanches). Le nom renvoie à l'aspect « tordu » de la colonne vertébrale et des membres dans les formes sévères, caractéristique de cette maladie."},"de":{"name":"Dysplasie, diastrophe","synonyms":["Kleinwuchs, diastrophischer"],"definition":"Eine seltene Osteochondrodysplasie, die durch verkürzte Gliedmaßen, einen normal großen Kopf, Kleinwuchs mit kurzen Extremitäten (die Endgröße im Erwachsenenalter beträgt 120 cm ± 20 cm) sowie Fehlbildungen der Wirbelsäule und der Gelenke, die zu multiplen Gelenkkontrakturen führen, gekennzeichnet ist. Diese betreffen vor allem die Schultern, Ellenbogen, Interphalangealgelenke und Hüften. Der Name verweist auf das ,,verdrehte'' Aussehen der Wirbelsäule und der Gliedmaßen, das vor allem bei schweren Formen charakteristisch ist."},"es":{"name":"Displasia diastrófica","synonyms":["Enanismo diastrófico"],"definition":"Es un trastorno poco frecuente caracterizada por talla baja con extremidades cortas (la talla final en el adulto es de 120cm +/- 10cm), y malformaciones de las articulaciones, que conducen a contracturas articulares múltiples (afectando principalmente a hombros, codos, articulaciones interfalángicas y caderas)."},"it":{"name":"Displasia diastrofica","synonyms":["Nanismo diastrofico"]},"nl":{"name":"Diastrofische dysplasie","synonyms":["Diastrofische dwerggroei"],"definition":"Een zeldzame osteochondrodysplasie, gekenmerkt door kortere ledematen, een normale rootte van het hoofd, kleine gestalte met korte ledematen (uiteindelijke volwassen lichaamslengte bedraagt 120cm +/- 20cm), misvormingen van de wervelkolom, en malformaties van gewrichten die leiden tot meervoudige gewrichtscontracturen (voornamelijk met betrokkenheid van schouders, ellebogen, interfalangeale gewrichten en heupen). De naam wijst op het ''gedraaide'' uiterlijk van de wervelkolom en ledematen bij ernstige vormen, een kenmerk dat eigen is aan deze aandoening."},"pt":{"name":"Displasia diastrófica","synonyms":["Nanismo diastrófico"],"definition":"O nanismo diastrófico é uma doença rara marcada por baixa estatura com extremidades curtas (altura final adulta 120cm +/- 10cm), e malformações das articulações levando a múltiplas contracturas articulares (envolvendo principalmente ombros, cotovelos, articulações interfalângicas e ancas)."},"pl":{"name":"Karłowatość/Niskorosłość diastroficzna","synonyms":["Dysplazja diastroficzna"]},"cs":{"name":"Diastrofický dwarfismus","synonyms":["Diastrofická dysplázie"]},"uk":{"name":"Діастрофічна дисплазія","synonyms":["Діастрофічна карликовість"],"definition":"A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)."},"zh":{"name":"畸形性侏儒","synonyms":["畸型发育不全"]},"tr":{"name":"Diastrofik cücelik","synonyms":["Diyastrofik displazi"]}},"xrefs":[{"source":"OMIM","code":"222600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1681550532"},{"source":"MONDO","code":"0009107","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536170","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220726","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6275","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081228","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364536,"name":"Primary bone dysplasia with micromelia","classifications":[147,156,199]},{"orpha":93423,"name":"Sulfation-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"SLC26A2","name":"solute carrier family 26 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301524[PMID]","hgnc":"10994","ensembl":"ENSG00000155850","omim":"606718","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.03,"area":"Finland","status":"Validated","source":"1948373[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-03","source":"20301524[PMID]_23657516[PMID]","terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008434","label":"Hypoplastic cervical vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008921","label":"Neonatal short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002947","label":"Cervical kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005857","label":"Cervical spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001234","label":"Hitchhiker thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034392","label":"Joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005619","label":"Thoracolumbar kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000460","label":"Narrow nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Occasional (29-5%)","criteria":null}]}}